ORPHA:436159
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Also known as: ALPS due to CTLA4 haploinsuffiency · CHAI · CTLA-4 haploinsufficiency with autoimmune infiltration disease
Publications
92,925
Trials
2
Interventional, condition-specific
Researchers
1,538
Distinct authors in sample
Gene link
CTLA4
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014493
- OMIM:616100
- UMLS:C4015214
- NCIT:C126341
Additional Mondo synonyms (9)
ALPS due to CTLA4 haploinsufficiency · ALPS type 5 · ALPS type V · CTLA4 haploinsufficiency · autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency · autoimmune lymphoproliferative syndrome type 5 · autoimmune lymphoproliferative syndrome type V · chai · immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
4/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — CTLA4
- LiteraturePresent
92,925 matched papers (74,337 in last 10 years) Source
- Phenotype characterisedPresent
54 HPO annotations (e.g. Decreased circulating immunoglobulin concentration; Atopic dermatitis; Splenomegaly) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
2 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (CTLA4).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
54
Associated phenotypes · MONDO:0014493
- Decreased circulating immunoglobulin concentration
- Atopic dermatitis
- Splenomegaly
- Autoimmune hemolytic anemia
- Autoimmune thrombocytopenia
Showing 5 of 54 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-27
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
92,925
92,925 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
92,925 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
74,337 in the last 10 years · low confidence
Phrase hits: 300 · MeSH hits: 0
Who's working on it?
1,538
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Cook MC4 papers · 2023
Department of Immunology and Infectious Diseases, Australian National University, Canberra, ACT, Australia.
Papers in Europe PMC - 02Kanegane H4 papers · 2026
Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Papers in Europe PMC - 03Leavis HL4 papers · 2026
Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht and Utrecht University, Utrecht, the Netherlands. h.leavis@umcutrecht.nl.
Papers in Europe PMC - 04Lucas CL4 papers · 2026
Molecular Development of the Immune System Section, Laboratory of Immunology, NIAID Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 05Tangye SG4 papers · 2026
Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Papers in Europe PMC - 06Warnatz K4 papers · 2025
Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Papers in Europe PMC - 07
- 08
- 09Consolini R3 papers · 2025
Section of Clinical and Laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Papers in Europe PMC - 10Cornalba M3 papers · 2024
University of Milan, Department of Clinical Sciences and Community Health, Milan, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 6 trials are registered for autoimmune lymphoproliferative syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 9 September 2026 · last trial check 28 July 2026
2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).
low confidence · 84.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: autoimmune lymphoproliferative syndrome
6
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06730126·RECRUITING·Study of the ITK Inhibitor Soquelitinib to Reduce Lymphoproliferation and Improve Cytopenias in Autoimmune Lymphoproliferative Syndrome (ALPS)-FAS Patients
Conditions: Autoimmune Lymphoproliferative Syndrome·Matched via name phrase
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency" OR "ALPS due to CTLA4 haploinsuffiency" OR "CTLA-4 haploinsufficiency with autoimmune infiltration disease" OR "ALPS due to CTLA4 haploinsufficiency" OR "ALPS type 5" OR "ALPS type V" OR "CTLA4 haploinsufficiency" OR "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency" OR "autoimmune lymphoproliferative syndrome type 5" OR "autoimmune lymphoproliferative syndrome type V" OR "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation") OR ("CTLA4" OR "CTLA4 syndrome" OR "CTLA4-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency" OR "ALPS due to CTLA4 haploinsuffiency" OR "CTLA-4 haploinsufficiency with autoimmune infiltration disease" OR "ALPS due to CTLA4 haploinsufficiency" OR "ALPS type 5" OR "ALPS type V" OR "CTLA4 haploinsufficiency" OR "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency" OR "autoimmune lymphoproliferative syndrome type 5" OR "autoimmune lymphoproliferative syndrome type V" OR "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autoimmune lymphoproliferative syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CHAI
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (92925) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T01:38:23.822Z